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Case Studies Illustrate the Dilemmas of Genetic Testing

A recent AAAS seminar explored the potential consequences of direct-to-consumer genetic testing—and the appropriate role of government regulation—through the lens of two individuals who went through genetic testing.

Customized nutritional products, diet supplements and vitamins are all sold by direct-to-consumer genetic testing companies, Donna Messner, Gordon Cain Fellow at the Chemical Heritage Foundation (CHF) said. There are also tests to determine a dog’s breed, a child’s paternity, and whether a child is likely to perform well in team or individual speed, endurance or strength sports.

Donna Messner

However, the most controversial form of direct-to-consumer genetic testing is when companies offer to test for health-related genes and susceptibility to getting certain diseases. These online testing services currently exist in a regulatory vacuum; their advertising is regulated by the Federal Trade Commission (FTC) and the information they provide online is protected under the First Amendment as commercial speech, Messner said, frequently leading to confusion.

“The FDA [Food and Drug Administration] is in the process of trying to decide how to regulate direct-to-consumer genetic tests,” she said. “So this is something that’s in the news that people are talking about.”

Messner spoke about informed choice in direct-to-consumer genetic testing 25 March as part of a series co-hosted by the AAAS Archives and the CHF Center of Contemporary History and Policy.

Messner wanted to study real-life scenarios of direct-to-consumer genetic testing and she decided to examine what many people would say is a worst-case scenario: susceptibility testing for a fatal, incurable disease. So she began interviewing first- degree relatives of those suffering from Alzheimer’s disease who said they were either interested in genetic testing or had already done it. Messner found many who said they might be interested in genetic testing but only two who had gone through with it. Put side-by-side, those two stories were especially instructive.

“The people [in the study] shared with me not only their time but very personal, moving stories and experiences and I feel a personal debt to those people to try to give voice to their concerns,” she said.

“Claire” is a highly motivated journalist in her mid-50s who graduated from a top-tier university. An avid runner and a vegan, she was forced to face her family history of Alzheimer’s disease when her mother began exhibiting symptoms. After doctor-shopping to find someone who would offer her genetic testing—before direct-to-consumer genetic testing was popular—Claire learned that she did have one copy of a gene strongly associated with Alzheimer’s disease.

Since receiving her genetic test results, Claire feels empowered. She started taking 50 supplements daily and exercising “like a demon” to prevent the onset of Alzheimer’s. “But part of this control thing that she has is that if she gets diagnosed in the future, she plans to commit suicide,” Messner said. When Claire sees a mail truck on the street, she asks herself if she could jump in front of it. Yet Claire is still glad she was tested.

“Josh,” a trained EMT in his mid-40s with a background in biology, works for a private clinical health research firm. He was less satisfied with his genetic testing experience.

After learning that he had slightly elevated blood glucose levels in a recent physical examination, Josh worried about developing type 2 diabetes. His company was running a study on health behavior and genetic testing, so Josh enrolled in the study to please his boss, thinking he could find out about his genetic susceptibility to diabetes at the same time.

“His company had an arrangement with a direct-to-consumer company such that, when you enrolled in the study, you don’t do a consent-type process there at the firm,” Messner said. “You just go to the direct-to-consumer company, use their online consent process, [and] order the test.”

While Josh learned that he does not have a genetic predisposition for type 2 diabetes, he was startled to learn that he does have two copies of a gene strongly associated with Alzheimer’s disease.

After receiving those results, Josh spoke to a genetic counselor who told him to diet and exercise. The Alzheimer’s association also told him to diet and exercise and that recent research found a link between consumption of curry and lower incidence of Alzheimer’s. Josh was floored. As far as he was concerned, everyone is supposed to diet and exercise. If that’s the only advice they have to offer, why even know about your susceptibility? Josh asked for advice from his doctor, who, he said, “was like a deer in the headlights.” He even went to a psychologist to deal with his distress over how to cope with this information, because he couldn’t find a way to manage it proactively.

“I feel at this point in time that I’ve been harmed by this and not helped by this,” Josh told Messner.

The difference between Claire and Josh’s experiences, according to Messner, is adequate preparation for the kind of results you might get from testing, which in a clinical context is called informed consent. While Claire “consciously chose to get that information, knew what she was getting, and didn’t regret it later,” Josh was blindsided by his result, so he did not have an effective consent process.

“In a direct-to-consumer context, there actually is no such thing as informed consent. The federal guidelines for informed consent do not apply in a consumer context,” Messner said. “All of the information on a direct-to-consumer website constitutes commercial speech, which is regulated by the FTC and which has actually been upheld by the courts to be protected by the First Amendment. So the legal information requirements for commercial speech are completely different than they are for informed consent.” Yet users of genetic testing services like Josh, and even the people running his clinical study, confuse the two types of information.

Josh feels bitter about the experience “because he feels that his company really abdicated their responsibility for informed consent when they just defaulted to the direct-to-consumer company,” she said. “He’s convinced that if there had been a face-to-face discussion [before the test], directing his attention to the other tests besides diabetes that were in this package, and if they had gotten him to think about his own family history, he really feels he would not have done this.”

Genetic counselors have found that “people are often notoriously unaware of their family histories,” Messner said. Claire didn’t realize that her grandmother had dementia and her great grandmother died in an asylum until her mother started showing symptoms of Alzheimer’s. Relatives of Josh’s mother had Alzheimer’s but he didn’t think of it because his mother is healthy. So Josh never even thought about Alzheimer’s when he ordered the test package.

Like many people who seek out genetic testing, Josh was strongly interested in learning whether he had a genetic predisposition towards type II diabetes. A recent study of 526 individuals using a custom-designed, consumer-friendly, direct-to-consumer website for genetic testing found that about 25% of the group only looked at the information on diabetes. Yet direct-to-consumer genetic testing companies test for dozens—up to as many as 100—different diseases which vary dramatically in seriousness, treatability, and preventability.

According to the FTC, deception exists “if there is a representation, omission or practice that is likely to mislead the consumer acting reasonably in the circumstances, to the consumer’s detriment” while injury exists “if consumers would have chosen differently but for the deception,” Messner said. “These bundled, health-related test packages militate against adequate preparation for the people who are buying them. In the FTC’s language, I think these bundled packages intrinsically mislead customers.”

Direct-to-consumer genetic testing companies often allow consumers to opt-out of specific tests, but Messner thought that feature is likely underutilized. “I think the default position should be to opt in, disaggregate the health-related tests, offer them individually, [with] individual pricing, [and] have compulsory step-through of the information for each selected disease with review,” she said.

“If you look at the history of medical device regulation, going back to the 1960s and early 70s, the FDA made some pretty bold moves in just claiming that they had jurisdiction,” she added, while Congress caught up later by amending laws to give the FDA the authority they needed. “I think it’s possible to change the landscape if everyone recognizes that the landscape needs to be changed.”

David Litwack, a AAAS Science and Technology Policy fellow and an opponent of direct-to-consumer genetic testing, felt vindicated after hearing the case studies at the seminar. “In most cases, the results of genetic testing cannot be used for practical decisions about health care,” Litwack said, “but companies providing these tests tend to implicitly or explicitly overstate their utility.”

Carol J. Weil, regulatory affairs advisor at the National Cancer Institute Office of Biorepositories and Biospecimen Research, attended the seminar because it relates to her work. Biorepositories need to have policies in place if someone contributes specimens for cancer research and genomic analysis of proteins related to cancer lead to the discovery of a mutation linked to an unrelated inherited genetic trait, such as Huntington’s disease, Weil explained. “I believe that biobanks need to think about and have policies, and consent processes, for dealing with these types of scenarios.”